Incidental Mutation 'R6032:Fam184b'
| ID |
486319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184b
|
| Ensembl Gene |
ENSMUSG00000015879 |
| Gene Name |
family with sequence similarity 184, member B |
| Synonyms |
9630031F12Rik |
| MMRRC Submission |
044204-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45687047-45796843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45740238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 316
(S316L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016023]
|
| AlphaFold |
Q0KK56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016023
AA Change: S316L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: S316L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM184
|
50 |
248 |
7.7e-28 |
PFAM |
|
coiled coil region
|
284 |
337 |
N/A |
INTRINSIC |
|
coiled coil region
|
387 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
525 |
N/A |
INTRINSIC |
|
coiled coil region
|
575 |
620 |
N/A |
INTRINSIC |
|
coiled coil region
|
686 |
775 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,526,799 (GRCm39) |
K1071* |
probably null |
Het |
| Abca13 |
G |
T |
11: 9,247,752 (GRCm39) |
V2500F |
possibly damaging |
Het |
| Adamdec1 |
T |
C |
14: 68,816,633 (GRCm39) |
E85G |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,264,970 (GRCm39) |
V199A |
probably benign |
Het |
| Aoc2 |
G |
A |
11: 101,216,627 (GRCm39) |
V237M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,062,240 (GRCm39) |
R672H |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,045,513 (GRCm39) |
N886S |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,927,303 (GRCm39) |
Y328C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,267,521 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crem |
C |
T |
18: 3,267,673 (GRCm39) |
R190Q |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,832,756 (GRCm39) |
S2000P |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,329,995 (GRCm39) |
T2629S |
probably benign |
Het |
| Cyp3a44 |
G |
T |
5: 145,714,756 (GRCm39) |
S465Y |
probably damaging |
Het |
| Daam2 |
A |
C |
17: 49,793,525 (GRCm39) |
F331V |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,205,443 (GRCm39) |
S146P |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fat2 |
G |
C |
11: 55,144,760 (GRCm39) |
T4038S |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,360,437 (GRCm39) |
R439C |
probably damaging |
Het |
| Gm3454 |
T |
A |
15: 75,183,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,617 (GRCm39) |
E284G |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,549 (GRCm39) |
I693N |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,934 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,937 (GRCm39) |
K458E |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,080 (GRCm39) |
F148L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,057,638 (GRCm39) |
T571A |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,469,254 (GRCm39) |
V108M |
probably damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,264,147 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,584,809 (GRCm39) |
T738S |
probably benign |
Het |
| Nrxn2 |
A |
T |
19: 6,567,162 (GRCm39) |
T1353S |
probably damaging |
Het |
| Or2b7 |
G |
T |
13: 21,740,077 (GRCm39) |
S38R |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,195 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8g17 |
A |
G |
9: 38,930,261 (GRCm39) |
I192T |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,406,747 (GRCm39) |
T333A |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,284,137 (GRCm39) |
I565F |
possibly damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,383 (GRCm39) |
V604A |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,119,598 (GRCm39) |
I323S |
possibly damaging |
Het |
| Prmt1 |
A |
G |
7: 44,626,526 (GRCm39) |
|
probably null |
Het |
| Rel |
A |
G |
11: 23,692,684 (GRCm39) |
S450P |
probably benign |
Het |
| Rpap2 |
A |
C |
5: 107,745,661 (GRCm39) |
D3A |
probably damaging |
Het |
| Shisa9 |
T |
C |
16: 11,802,772 (GRCm39) |
F110L |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,784 (GRCm39) |
|
probably null |
Het |
| Slx4 |
A |
T |
16: 3,798,021 (GRCm39) |
F1454L |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,430 (GRCm39) |
V1198D |
possibly damaging |
Het |
| Supt5 |
T |
C |
7: 28,015,600 (GRCm39) |
Y879C |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,833 (GRCm39) |
M568T |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,472 (GRCm39) |
H698R |
possibly damaging |
Het |
| Trappc9 |
T |
C |
15: 72,797,379 (GRCm39) |
N803D |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,182,606 (GRCm39) |
R157S |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,131,025 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,874 (GRCm39) |
S178G |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,543,058 (GRCm39) |
R34Q |
probably damaging |
Het |
|
| Other mutations in Fam184b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Fam184b
|
APN |
5 |
45,697,091 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00781:Fam184b
|
APN |
5 |
45,712,534 (GRCm39) |
splice site |
probably null |
|
|
IGL01636:Fam184b
|
APN |
5 |
45,741,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02008:Fam184b
|
APN |
5 |
45,690,165 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02123:Fam184b
|
APN |
5 |
45,796,493 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02177:Fam184b
|
APN |
5 |
45,690,157 (GRCm39) |
nonsense |
probably null |
|
|
IGL02192:Fam184b
|
APN |
5 |
45,695,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02478:Fam184b
|
APN |
5 |
45,695,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03368:Fam184b
|
APN |
5 |
45,689,166 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0003:Fam184b
|
UTSW |
5 |
45,712,536 (GRCm39) |
splice site |
probably benign |
|
|
R0129:Fam184b
|
UTSW |
5 |
45,690,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Fam184b
|
UTSW |
5 |
45,741,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Fam184b
|
UTSW |
5 |
45,741,932 (GRCm39) |
missense |
probably benign |
|
|
R1215:Fam184b
|
UTSW |
5 |
45,741,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1374:Fam184b
|
UTSW |
5 |
45,712,485 (GRCm39) |
missense |
probably benign |
|
|
R1466:Fam184b
|
UTSW |
5 |
45,737,851 (GRCm39) |
splice site |
probably benign |
|
|
R1773:Fam184b
|
UTSW |
5 |
45,741,676 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1865:Fam184b
|
UTSW |
5 |
45,689,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3615:Fam184b
|
UTSW |
5 |
45,740,157 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3616:Fam184b
|
UTSW |
5 |
45,740,157 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4180:Fam184b
|
UTSW |
5 |
45,697,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4375:Fam184b
|
UTSW |
5 |
45,699,685 (GRCm39) |
missense |
probably benign |
|
|
R4674:Fam184b
|
UTSW |
5 |
45,740,230 (GRCm39) |
nonsense |
probably null |
|
|
R4942:Fam184b
|
UTSW |
5 |
45,730,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5021:Fam184b
|
UTSW |
5 |
45,730,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5450:Fam184b
|
UTSW |
5 |
45,697,143 (GRCm39) |
missense |
probably benign |
|
|
R5731:Fam184b
|
UTSW |
5 |
45,710,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5858:Fam184b
|
UTSW |
5 |
45,796,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6032:Fam184b
|
UTSW |
5 |
45,740,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6060:Fam184b
|
UTSW |
5 |
45,710,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6088:Fam184b
|
UTSW |
5 |
45,741,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Fam184b
|
UTSW |
5 |
45,694,995 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6932:Fam184b
|
UTSW |
5 |
45,690,243 (GRCm39) |
splice site |
probably null |
|
|
R6956:Fam184b
|
UTSW |
5 |
45,688,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6965:Fam184b
|
UTSW |
5 |
45,712,477 (GRCm39) |
missense |
probably benign |
|
|
R7229:Fam184b
|
UTSW |
5 |
45,741,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Fam184b
|
UTSW |
5 |
45,699,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7429:Fam184b
|
UTSW |
5 |
45,698,230 (GRCm39) |
missense |
probably benign |
|
|
R7522:Fam184b
|
UTSW |
5 |
45,688,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Fam184b
|
UTSW |
5 |
45,699,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7942:Fam184b
|
UTSW |
5 |
45,741,595 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8172:Fam184b
|
UTSW |
5 |
45,741,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9470:Fam184b
|
UTSW |
5 |
45,741,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Fam184b
|
UTSW |
5 |
45,796,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGCCAATCAGATGCAATGG -3'
(R):5'- AAGGTGACTGCTGATCCTCC -3'
Sequencing Primer
(F):5'- ATCAGATGCAATGGTCCCG -3'
(R):5'- CCCTCCCAGCTGCTATAATTCTAGAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation